Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Irina N. Bespalova"'
Publikováno v:
BioTechniques, Vol 24, Iss 4, Pp 575-577 (1998)
Externí odkaz:
https://doaj.org/article/603e6900cd8e44388e7d7be60a9de8f5
Autor:
Ben P. Ritter, Irina N. Bespalova, Gary Angelo, María L Reyes-Rabanillo, Larry J. Siever, Jeremy M. Silverman, Jason Hunter
Publikováno v:
NeuroMolecular Medicine. 14:53-64
ADAMTS12 belongs to the family of metalloproteinases that mediate a communication between specific cell types and play a key role in the regulation of normal tissue development, remodeling, and degradation. Members of this family have been implicated
Autor:
Rebecca K. West, Simmi Bhatia, James Schmeidler, Rizalina Mavris, Clive Rosendorff, Irina N. Bespalova, Jeremy M. Silverman, Michal S. Beeri, Jennifer Huang
Publikováno v:
Age and Ageing. 41:125-128
SIR—Type 2 diabetes has long been associated with cognitive decline [1–6] and both Alzheimer's and vascular dementia [7–14]. Diagnosis and glycaemic control can be assessed by measuring glycosylated haemoglobin—or haemoglobin A1c (HbA1c)—le
Autor:
Martina Durner, Jeremy M. Silverman, José R. Carrión-Baralt, James Schmeidler, Enrique Rossy-Fullana, Gary Angelo, Irina N. Bespalova, Benjamin P. Ritter
Publikováno v:
Schizophrenia Research. 124:208-215
Background The AMACR gene is located in the schizophrenia susceptibility locus on chromosome 5p13, previously identified in a large Puerto Rican pedigree of Spanish origin. The AMACR-encoded protein is an enzyme involved in the metabolism of branched
Autor:
Christopher J. Smith, Joseph D. Buxbaum, Larry J. Siever, Jeremy M. Silverman, Martina Durner, Gary Angelo, Irina N. Bespalova
Publikováno v:
Psychiatric Genetics. 15:205-210
A locus involved in schizophrenia and related disorders in a Puerto Rican family has previously been mapped to chromosome 5p. The maximum two-point log of the odds (LOD) score of 3.72 was obtained for marker D5S111, and increased to 4.37 by multipoin
Autor:
Joseph D. Buxbaum, Jeremy M. Silverman, Kenneth L. Davis, Nicolas Ramoz, Christopher J. Smith, Jennifer Reichert, Irina N. Bespalova
Publikováno v:
American Journal of Psychiatry. 161:662-669
Autism/autistic disorder (MIM number 209850) is a complex, largely genetic psychiatric disorder. The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). In the present study, genes across the 2
Autor:
Margit Burmeister, Eugene Dulaney, Farrel R. Robinson, Sheng Li, Barbara E. Swartz, Irina N. Bespalova, R. John Leigh
Publikováno v:
Annals of Neurology. 54:824-828
We describe a family of Slovenian descent with progressive ataxia, corticospinal signs, axonal sensorimotor neuropathy, and disruption of visual fixation by saccadic intrusions. Chromosome mapping indicated a mutation on 1p36, and this recessive diso
Autor:
R. John Leigh, Jeffrey T. Somers, Barbara E. Swartz, Irina N. Bespalova, Klaus G. Rottach, Margit Burmeister
Publikováno v:
Annals of the New York Academy of Sciences. 956:441-444
Over the past five years, rapid progress has been made in genetically identifying different forms of spinocerebellar atrophy (SCA), for which several characteristic disorders of eye movements have been reported. 1,2 Nonetheless, the genetic disorder
Autor:
Benjamin P. Ritter, Enrique Rossy-Fullana, Martina Durner, José R. Carrión-Baralt, Jeremy M. Silverman, Gary Angelo, Irina N. Bespalova
Publikováno v:
Psychiatry Research. 179:235-237
We previously identified a small region on chromosome 5p13 related to schizophrenia in a Puerto Rican pedigree. We screened one of the positional candidate genes, C1QTNF3, for mutations in affected family members. The direct sequencing identified 10
Publikováno v:
American Journal of Medical Genetics. 74:467-471
Two mutations in the cystatin B gene, a 3* splice mutation and a stop codon mutation, were previously found in patients with progressive myoclonus epilepsy of UnverrichtLundborg type [Pennacchio et al. (1996): Science 271:1731‐1734]. We present her